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Col11a1
Gene Detail
Symbol

Name
ID
Col11a1
collagen, type XI, alpha 1
MGI:88446
Synonyms
C530001D20Rik
Feature Type
protein coding gene
Genetic Map
Chromosome 3
49.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr3:114030540-114220718 bp, + strand
From VEGA annotation of GRCm38

  190179 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:56389  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

Gene Tree: Col11a1

Human
homologs
Human Homolog COL11A1, collagen, type XI, alpha 1
NCBI Gene ID 1301
neXtProt AC  NX_P12107
Human Synonyms  CO11A1, COLL6, STL2
Human Chr (Location)  1p21; chr1:102876467-103108496 (-)  GRCh38
Disease Associations  (4) Diseases Associated with Human COL11A1
Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Spontaneous(1) Targeted(1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in perinatal lethality by asphyxia. Mutants animals display weak tracheal cartilage, short snout, short mandible, cleft palate, short limbs, and externally rotated distal portion of the hindlimbs.
 
Human Diseases Modeled Using Mouse Col11a1 (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Col11a1 interacts with 354 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (22 records)
Data Summary: Results (242)    Tissues (66)    Images (43)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 1
RNA in situ 204
Northern blot 14
RT-PCR 23
cDNA source data(106)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(112) Genomic(2) cDNA(106) Primer pair(4)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000022509 (Evidence)
Ensembl Gene ModelENSMUSG00000027966 (Evidence)
Entrez Gene12814 (Evidence)
UniGene209715
DFCITC1579972, TC1601321, TC1604972, TC1626944, TC1658686, TC1713954
DoTSDT.101206112, DT.101704553, DT.40163431, DT.91333052, DT.94135163
NIA Mouse Gene IndexU003761
Consensus CDS ProjectCCDS17778.1
International Mouse Knockout Project StatusCol11a1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022509 VEGA Gene Model | MGI Sequence Detail 190179 C57BL/6J ±  kb
transcript OTTMUST00000053888 VEGA | MGI Sequence Detail 7667 Not Applicable 
polypeptide OTTMUSP00000025652 VEGA | MGI Sequence Detail 1804 Not Applicable 

For the selected sequences
All sequences(77) RefSeq(11) UniProt(17)
Polymorphisms
PCR(1) : SNPs within 2kb(2167 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2171)
Protein-related
information
ResourceIDDescription
InterPro IPR008160 Collagen triple helix repeat
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR000885 Fibrillar collagen, C-terminal
InterPro IPR001791 Laminin G domain
Protein Ontology PR:000005694 collagen alpha-1(XI) chain
References
(Earliest) J:24730 Seegmiller R, Chondrodysplasia - an autosomal recessive mutation. Mouse News Lett. 1969;40:38
(Latest) J:197791 Masago Y, et al., The molecular chaperone Hsp47 is essential for cartilage and endochondral bone formation. J Cell Sci. 2012 Mar 1;125(Pt 5):1118-28
All references(69)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-1972, MGD-MRK-2053, MGI:1924905

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/18/2014
MGI 5.20
The Jackson Laboratory